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Understanding and Managing 5p Duplication Disorder: Symptoms, Causes, and Current Research

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5p duplication is a genetic disorder that is caused due to an extra copy of genetic material on chromosome 5. Refer to this article for a detailed description.

Medically reviewed by

Dr. Muhammad Zubayer Alam

Published At October 18, 2023
Reviewed AtOctober 18, 2023

Introduction:

5p duplication is a genetic disorder caused due to an extra copy of genetic material on the short arm p of chromosome 5. This disorder is caused due to an inborn error called duplication. The other names for 5p duplication are trisomy 5p, duplication 5p syndrome, and supernumerary marker chromosome 5p. Gene duplication in chromosomes ranges from small to large duplications. Therefore, the severity of the symptoms of the disorder depends on the duplication error's length and location. In long duplication errors, symptoms are more severe than in short duplication. Individuals suffering from this disorder have distinctive facial appearances, delayed growth, and intellectual abilities and are also retarded.

What Is Meant by Chromosomal Aberrations?

Chromosomal aberrations explain structural and numerical abnormalities. The chromosomal mutation is the other name for chromosomal aberration. Structural changes or abnormalities are called structural aberrations, and numerical changes or abnormalities are called ploidy changes or numerical aberrations. Structural aberrations comprise the errors in which a chromosome or gene segment is extra, lost, or located in another region (translocated). Chromosomal aberrations have been classified into four types, namely:

  • Deficiency or deletion.

  • Duplication.

  • Inversion.

  • Translocation.

What Is the Duplication Type of Chromosomal Aberration?

Duplication is an error that is caused due to abnormalities in the recombination procedure.

Recombination is a process by which different characteristic features are produced by breaking DNA (Deoxyribonucleic acid) fragments and their combination in various forms. Duplication occurs in two forms, single gene duplication and whole genome duplication. Single gene duplication explains the error where only a single gene in the entire genetic material gets duplicated or doubles up. Still, in the whole genome type of duplication, the complete genome is noted to be doubled up or duplicated. Clinical features are noted to be more severe in cases of whole genome duplication. Duplication type of genetic error or aberration is expressed with various signs and symptoms specific to every genetic disorder.

How Is 5p Duplication Caused?

5p duplication disorder is caused due to deletion of genetic material in chromosome 5 in the distal part of the short arm p. In most cases, the deletion of genetic material is noted in the terminal end of chromosome 5. More significant deletion shows more complex features than shorter duplication errors. Multiple genetic alterations occur in this type of genetic error. At present, all genes are not studied. Researchers are working extensively on identifying the genes responsible for the disorder. Chromosomes are present in the nucleus of a cell present in the entire body of an individual. They are responsible for distinct characteristics in every individual. Each chromosome has two arms, one short and the other long. The short arm is denoted as p, and the long arm is denoted by q. The duplication of the genetic material generally occurs due to a random error and is mostly not inherited.

Is 5p Duplication Disorder Inherited?

5p duplication disorder is not an inherited disorder, and it is caused due to genetic error. This occurs due to a random error during the reproductive cell's production of eggs and sperm or early fetal development. Affected people have no history of a similar disorder but may pass this chromosomal deletion to their children. Five to ten percent of individuals even inherit these chromosomal deletion errors from parents unaffected by 5p duplication disorder. Structural chromosomal aberrations are responsible for the development of these genetic disorders. These chromosomal abnormalities produce symptoms that are typical of this genetic error.

What Are the Clinical Features of the Genetic Disorder Due to 5p Duplication Mutation?

The following are the most commonly reported general clinical features:

  • Delayed growth.

  • Altered development of speech.

  • Motor skills such as sitting and standing are affected, which causes difficulty in carrying out daily activities.

  • Attention deficit hyperactivity disorder is a commonly noted feature in 5p duplication. It is a neurodevelopmental disorder diagnosed in childhood and continues up to adulthood. Children suffering from this disorder have difficulty concentrating, get easily distracted, and have delayed thinking abilities. They need help learning the alphabet, spelling, and mathematical tables.

  • Compulsive behavior, such as shredding papers, is expected to alter behavior in these children.

  • As seen in autism, impaired socializing skills are also noted in these children.

  • Few individuals also suffer from heart and kidney disorders.

The following are a few distinctive features reported in individuals suffering from genetic disorders due to deletion:

  • The back of the head appears to be flat.

  • Hypertelorism (widely spaced eyes are commonly noted).

  • The eyelid fold is slanted upward.

  • Eyebrows have a high arch appearance.

  • The midfacial region of the individual is generally flat in appearance.

  • A short nose and flat nasal bridge are characteristic features in these individuals.

  • Widened philtrum over the lips.

  • Small lower jaw.

  • Abnormally protruded lips.

  • Ears are malformed.

  • The palate has a high arch appearance.

  • Presence of palatal clefts.

The genetic disorders caused due to deletion errors, namely, 6q deletion, 11q deletion, 9p deletion, and 5p duplication error, portray more or less similar characteristics, including delayed growth, retarded intellectual status, and distinctive facial appearance.

What Are the Management Protocols for 5p Deletion Disorder?

Researchers are working to search for a definite treatment protocol for this disorder. The doctors focus on providing symptomatic relief that eases these individuals' daily activities. Psychiatrists aim to reduce the symptoms of behavioral disorders and improve these individuals' socializing skills. Physiotherapists seek to enhance the motor skills of these individuals. So that they can sit, stand, and walk without any secondary support or minimum assistance. Dental practitioners aim to improve individuals' oral hygiene to reduce the caries rate. Specialized doctors treat individuals with severe signs and symptoms, including heart and kidney disorders, with utmost care.

Conclusion:

5p deletion disorder is a rare genetic disorder caused due to duplication of genetic material in chromosome 5’s short arm p. The signs and symptoms vary widely; thus, clinicians should thoroughly examine the patients. Solid treatment and protocol are unavailable, but various research is going on in medical genetics to treat this disorder. Genetic mapping and targeted gene therapy are extensively studied for their application in diagnosing and treating rare genetic disorders like 5p duplication.

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Dr. Muhammad Zubayer Alam
Dr. Muhammad Zubayer Alam

Pulmonology (Asthma Doctors)

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